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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CTDNEP1

Variant:p.Y125insFs

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CTDNEP1

NM_001143775.2:p.Y125insFs

hg38:chr17:7246357 T>TA

Associated Papers

In-depth analysis reveals complex molecular aetiology in a cohort of idiopathic cerebral palsy.

Li N et al.

Brain : a Journal of Neurology, 2022

34077496 (PubMed )

Supplement: awab209_supplementary_data.zip › brain-2020-02299-File011.pdf

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."